hrp0098p2-402 | Late Breaking | ESPE2024

Evaluation of clinical characteristics and genotype-phenotype correlation of resistance to thyroid hormone receptor Beta (RTHβ) due to THRβ gene mutations

Gulal Gonul , Erozan Cavdarlı Busra , Bilge Koca Serkan , Toksoy Adiguzel Keziban , Topaloglu Oya , Aydin Cevdet , Hepsen Sema , Cakal Erman , Semerci Gunduz Nur , Boyraz Mehmet , Gurbuz Fatih , Demirbilek Huseyin

Background: Resistance to thyroid hormone β (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aim ed to evaluate the clinical, laboratory features, and genotype-phenotype relationship of Turkish patients with RTHβ.Patients and Methods: Patients who underwent a THRβ gene analysis betwe...